Canonical Allele Identifier: CA4205580

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30594980T>C , CM000669.2:g.30594980T>C	GRCh38
NC_000007.13:g.30634596T>C , CM000669.1:g.30634596T>C	GRCh37
NC_000007.12:g.30601121T>C	NCBI36
NG_007942.1:g.5416T>C , LRG_243:g.5416T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002047.4:c.59T>C MANE Select	NP_002038.2:p.Leu20Pro
ENST00000389266.8:c.59T>C MANE Select	ENSP00000373918.3:p.Leu20Pro
NM_001316772.1:c.-104T>C	NP_001303701.1:n.-104T>C
NM_002047.2:c.59T>C , LRG_243t1:c.59T>C	NP_002038.2:p.Leu20Pro
NM_002047.3:c.59T>C	NP_002038.2:p.Leu20Pro
ENST00000389266.7:c.59T>C	ENSP00000373918.3:p.Leu20Pro
ENST00000444666.6:c.59T>C	ENSP00000415447.2:p.Leu20Pro
ENST00000454308.5:c.59T>C	ENSP00000392677.1:p.Leu20Pro
ENST00000454308.6:c.59T>C	ENSP00000392677.2:p.Leu20Pro
ENST00000470392.2:n.149T>C
ENST00000478124.5:n.97T>C
ENST00000478124.6:n.122T>C
ENST00000485784.2:n.138T>C
ENST00000627489.1:c.59T>C	ENSP00000485931.1:p.Leu20Pro
ENST00000674616.1:c.59T>C	ENSP00000502408.1:p.Leu20Pro
ENST00000674643.1:c.59T>C	ENSP00000501636.1:p.Leu20Pro
ENST00000674737.1:c.59T>C	ENSP00000502464.1:p.Leu20Pro
ENST00000674807.1:c.59T>C	ENSP00000502814.1:p.Leu20Pro
ENST00000674815.1:c.-148+28T>C	ENSP00000502799.1:n.-148+28T>C
ENST00000674851.1:c.-184+28T>C	ENSP00000502451.1:n.-184+28T>C
ENST00000674969.1:n.99T>C
ENST00000675051.1:c.22-3816T>C	ENSP00000502296.1:n.22-3816T>C
ENST00000675529.1:c.59T>C	ENSP00000501655.1:p.Leu20Pro
ENST00000675587.1:n.75T>C
ENST00000675651.1:c.59T>C	ENSP00000502513.1:p.Leu20Pro
ENST00000675693.1:c.18+41T>C	ENSP00000502174.1:n.18+41T>C
ENST00000675810.1:c.59T>C	ENSP00000502743.1:p.Leu20Pro
ENST00000675859.1:c.59T>C	ENSP00000502033.1:p.Leu20Pro
ENST00000675863.1:n.67T>C
ENST00000675886.1:n.87T>C
ENST00000676088.1:c.59T>C	ENSP00000501884.1:p.Leu20Pro
ENST00000676140.1:c.59T>C	ENSP00000502571.1:p.Leu20Pro
ENST00000676164.1:c.59T>C	ENSP00000501986.1:p.Leu20Pro
ENST00000676210.1:c.59T>C	ENSP00000502373.1:p.Leu20Pro
ENST00000676259.1:c.59T>C	ENSP00000501980.1:p.Leu20Pro
ENST00000676403.1:c.59T>C	ENSP00000502681.1:p.Leu20Pro
XM_006715686.2:c.-421T>C	XP_006715749.1:n.-421T>C